Canonical Allele Identifier: CA2230762932

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483930C= , CM000678.2:g.70483930C=	GRCh38
NC_000016.9:g.70517833C= , CM000678.1:g.70517833C=	GRCh37
NC_000016.8:g.69075334C=	NCBI36
NG_027529.1:g.44625G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1826G=	ENSP00000461912.2:n.*1826G=
ENST00000703106.1:c.1795G=	ENSP00000515173.1:n.1795G=
ENST00000703107.1:c.*1679G=	ENSP00000515174.1:n.*1679G=
ENST00000703108.1:c.*198G=	ENSP00000515175.1:n.*198G=
ENST00000703109.1:c.1783G=	ENSP00000515176.1:p.Glu595=
ENST00000703110.1:c.*1252G=	ENSP00000515177.1:n.*1252G=
ENST00000703111.1:n.1757G=
ENST00000703112.1:n.2523G=
ENST00000703113.1:c.*1163G=	ENSP00000515178.1:n.*1163G=
ENST00000703114.1:c.*399G=	ENSP00000515179.1:n.*399G=
ENST00000703115.1:c.863G=	ENSP00000515180.1:n.863G=
ENST00000323786.10:c.1750G= MANE Select	ENSP00000315775.5:p.Glu584=
ENST00000564415.6:c.*1530G=	ENSP00000456653.2:n.*1530G=
ENST00000674443.1:c.1675G=	ENSP00000501405.1:p.Glu559=
ENST00000323786.9:c.1750G=	ENSP00000315775.5:p.Glu584=
ENST00000393612.8:c.1687G=	ENSP00000377236.5:p.Glu563=
ENST00000482252.5:c.1897G=	ENSP00000432802.1:n.1897G=
ENST00000526700.5:n.926G=
ENST00000530314.5:n.2429G=
ENST00000564315.1:n.210G=
ENST00000564415.5:c.*1530G=	ENSP00000456653.1:n.*1530G=
NM_001195139.1:c.1687G=	NP_001182068.1:p.Glu563=
NM_015386.2:c.1750G=	NP_056201.2:p.Glu584=
XM_011522981.1:c.1324G=	XP_011521283.1:p.Glu442=
XR_933266.1:n.1696G=
XR_933267.1:n.1696G=
XM_011522981.3:c.1324G=	XP_011521283.1:p.Glu442=
XM_024450224.1:c.769G=	XP_024305992.1:p.Glu257=
XR_001751889.1:n.1633G=
XR_933266.2:n.1696G=
NM_015386.3:c.1750G= MANE Select	NP_056201.2:p.Glu584=
NM_001195139.2:c.1675G=	NP_001182068.2:p.Glu559=
NM_001365426.1:c.1324G=	NP_001352355.1:p.Glu442=
NR_158212.1:n.1709G=